Mutagenetix > Incidental Mutation

Incidental Mutation 'R6869:Wfdc8'

536067

Institutional Source

Beutler Lab

Gene Symbol

Wfdc8

Ensembl Gene

ENSMUSG00000070533

Gene Name

WAP four-disulfide core domain 8

Synonyms

LOC277343

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6869 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

164596458-164613626 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 164599092 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Asparagine at position 244 (D244N)

Ref Sequence

ENSEMBL: ENSMUSP00000104962 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000094351] [ENSMUST00000109338] [ENSMUST00000109339]

AlphaFold

Q4KUS1

Predicted Effect

probably benign
Transcript: ENSMUST00000094351

SMART Domains

Protein: ENSMUSP00000091911
Gene: ENSMUSG00000070533

Domain	Start	End	E-Value	Type
low complexity region	54	65	N/A	INTRINSIC
WAP	79	123	1.88e-2	SMART
KU	125	178	8.81e-25	SMART
WAP	182	226	8.82e-6	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000109338
AA Change: D244N

PolyPhen 2 Score 0.822 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000104962
Gene: ENSMUSG00000070533
AA Change: D244N

Domain	Start	End	E-Value	Type
low complexity region	54	65	N/A	INTRINSIC
WAP	79	123	1.88e-2	SMART
KU	125	178	8.81e-25	SMART
WAP	182	226	8.82e-6	SMART
WAP	229	272	1.84e-2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000109339

SMART Domains

Protein: ENSMUSP00000104963
Gene: ENSMUSG00000070533

Domain	Start	End	E-Value	Type
low complexity region	54	65	N/A	INTRINSIC
WAP	79	123	1.88e-2	SMART
KU	125	178	8.81e-25	SMART
WAP	182	226	8.82e-6	SMART
low complexity region	300	313	N/A	INTRINSIC
low complexity region	384	393	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.2%

Validation Efficiency

97% (61/63)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the WAP-type four-disulfide core (WFDC) domain family. The WFDC domain, or WAP signature motif, contains eight cysteines forming four disulfide bonds at the core of the protein, and functions as a protease inhibitor. The encoded protein contains a Kunitz-inhibitor domain, in addition to three WFDC domains. Most WFDC genes are localized to chromosome 20q12-q13 in two clusters: centromeric and telomeric. This gene belongs to the telomeric cluster. Two alternatively spliced transcript variants have been found for this gene, and they encode the same protein. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankdd1b	A	T	13: 96,444,291	N166K	possibly damaging	Het
Arhgap30	G	T	1: 171,409,055	R999L	probably damaging	Het
Bnc2	T	A	4: 84,293,496	D212V	probably damaging	Het
Bpifb5	T	C	2: 154,233,223	I357T	probably benign	Het
Catsperb	T	C	12: 101,480,737	F208S	probably benign	Het
Cc2d2b	T	A	19: 40,809,454	H1105Q	probably benign	Het
Chchd6	T	C	6: 89,595,496	D17G	probably damaging	Het
Chd6	T	C	2: 160,965,730	S1855G	probably benign	Het
Cpe	A	G	8: 64,619,427	V143A	probably benign	Het
Cyfip1	T	A	7: 55,907,365	V770D	possibly damaging	Het
Cyp1a1	A	T	9: 57,702,784	M494L	probably benign	Het
Dcstamp	T	C	15: 39,754,458	S88P	probably damaging	Het
Dnah2	T	A	11: 69,429,471	N3924I	probably damaging	Het
F830045P16Rik	T	C	2: 129,474,561	E76G	probably damaging	Het
Fam91a1	T	A	15: 58,431,268	V342E	probably benign	Het
Fastkd1	G	A	2: 69,702,760	A421V	probably benign	Het
Fgf20	T	C	8: 40,281,148	Y64C	probably damaging	Het
Gen1	A	T	12: 11,241,441	N847K	probably benign	Het
Gm438	A	T	4: 144,780,472		probably null	Het
Gm4922	A	T	10: 18,784,515	I153K	probably damaging	Het
Gm6619	T	C	6: 131,486,438	I6T	unknown	Het
H2-Ab1	T	C	17: 34,267,563	Y199H	probably damaging	Het
Hdac7	C	A	15: 97,796,176	L737F	probably damaging	Het
Hells	A	G	19: 38,940,635	N121D	probably benign	Het
Itga2	G	A	13: 114,875,537		probably null	Het
Itgb1	A	G	8: 128,720,035	D391G	probably benign	Het
Lama5	G	A	2: 180,191,662	P1519L	probably damaging	Het
Lbx1	T	A	19: 45,234,951	S93C	probably damaging	Het
Lmod2	T	C	6: 24,604,127	M367T	probably benign	Het
Lrrc43	G	A	5: 123,504,276		probably null	Het
Man2a2	C	T	7: 80,362,945	G574D	probably benign	Het
Mier2	T	G	10: 79,542,669	K343T	probably damaging	Het
Msh5	A	T	17: 35,041,834		probably null	Het
Mtus1	T	C	8: 41,082,654	Q675R	possibly damaging	Het
Ncan	A	T	8: 70,107,907	H803Q	probably benign	Het
Nckap5l	A	G	15: 99,426,453	V723A	probably damaging	Het
Nectin3	G	A	16: 46,395,143	R79C	probably damaging	Het
Nlrc5	A	G	8: 94,521,955	E1735G	probably benign	Het
Nrros	A	G	16: 32,144,431	L220S	probably damaging	Het
Olfr1107	T	A	2: 87,071,673	I154F	probably benign	Het
Olfr584	G	A	7: 103,085,868	V112M	possibly damaging	Het
Oxa1l	C	T	14: 54,366,738	P152S	probably damaging	Het
Pdcd6ip	A	G	9: 113,655,106	Y818H	unknown	Het
Pik3cb	A	T	9: 99,060,259	S682T	probably benign	Het
Ppp1r3a	A	C	6: 14,754,826	S141A	probably benign	Het
Prrc2c	TTGCTGCTGCTGCTGCTGCTGCTGCTGC	TTGCTGCTGCTGCTGCTGCTGCTGC	1: 162,709,061		probably benign	Het
Ptprk	T	C	10: 28,473,059		probably null	Het
Ranbp17	T	C	11: 33,513,074		probably benign	Het
Rcbtb1	T	C	14: 59,217,602	V95A	probably benign	Het
Retreg3	G	A	11: 101,119,818		probably benign	Het
Rhobtb1	T	C	10: 69,270,226	L207P	probably damaging	Het
Rsf1	GGCG	GGCGACGGCTGCG	7: 97,579,906		probably benign	Het
Sh3bgr	A	G	16: 96,206,660	Y75C	probably damaging	Het
Strip1	T	C	3: 107,613,445	D763G	probably damaging	Het
Stxbp5l	A	T	16: 37,204,448	V596E	possibly damaging	Het
Tas2r138	A	G	6: 40,612,421	I297T	probably damaging	Het
Topors	A	C	4: 40,261,201	N694K	unknown	Het
Tymp	T	C	15: 89,376,691	R20G	probably benign	Het
Ubr4	A	G	4: 139,467,227	T1144A	possibly damaging	Het
Unc79	A	T	12: 103,113,072	Q1636L	probably benign	Het
Vmn1r78	A	G	7: 12,152,749	M96V	probably benign	Het
Zbtb49	G	T	5: 38,214,350	N62K	probably damaging	Het
Zfp579	G	T	7: 4,994,461	D150E	probably benign	Het

Other mutations in Wfdc8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01896:Wfdc8	APN	2	164605780	missense	probably damaging	1.00
IGL02012:Wfdc8	APN	2	164603150	splice site	probably benign
IGL02831:Wfdc8	APN	2	164605765	critical splice donor site	probably null
PIT4131001:Wfdc8	UTSW	2	164597776	missense	possibly damaging	0.94
PIT4520001:Wfdc8	UTSW	2	164603303	missense	probably benign	0.09
R0006:Wfdc8	UTSW	2	164599064	missense	probably damaging	0.96
R0225:Wfdc8	UTSW	2	164597185	missense	probably benign	0.04
R0603:Wfdc8	UTSW	2	164603225	missense	probably damaging	1.00
R1741:Wfdc8	UTSW	2	164608869	unclassified	probably benign
R5484:Wfdc8	UTSW	2	164597729	missense	probably benign	0.11
R5546:Wfdc8	UTSW	2	164597319	utr 3 prime	probably benign
R5614:Wfdc8	UTSW	2	164603203	missense	probably damaging	1.00
R5668:Wfdc8	UTSW	2	164597419	utr 3 prime	probably benign
R6410:Wfdc8	UTSW	2	164597743	missense	probably benign	0.10
R7726:Wfdc8	UTSW	2	164599986	missense	possibly damaging	0.77
R7770:Wfdc8	UTSW	2	164597674	missense	unknown
R8150:Wfdc8	UTSW	2	164597535	nonsense	probably null
R8424:Wfdc8	UTSW	2	164603158	missense	probably benign	0.03
R8783:Wfdc8	UTSW	2	164605849	missense	probably benign	0.41
R9094:Wfdc8	UTSW	2	164597325	missense	unknown

Predicted Primers

PCR Primer
(F):5'- ACATCATTTGACAGAAGTGAGAGC -3'
(R):5'- CAGTGAGCACAAATTGGCGG -3'

Sequencing Primer
(F):5'- AGTGAGAGCCTTATTTTATGCTACCC -3'
(R):5'- GTCTTGTGCTAAGTATGCACAC -3'

Posted On

2018-10-18